ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.79-11del (rs748715820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342189 SCV000457640 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000342189 SCV000604583 benign Succinyl-CoA acetoacetate transferase deficiency 2020-06-28 criteria provided, single submitter clinical testing

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